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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1997 1
2000 1
2001 1
2004 1
2010 1
2012 1
2013 2
2014 1
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Page 1
Cerebro-oculo-facio-skeletal syndrome.
Suzumura H, Arisaka O. Suzumura H, et al. Adv Exp Med Biol. 2010;685:210-4. doi: 10.1007/978-1-4419-6448-9_19. Adv Exp Med Biol. 2010. PMID: 20687508 Review.
Cerebro-oculo-facio-skeletal (COFS) syndrome is an autosomal recessive inherited disorder characterized by congenital microcephaly, congenital cataracts and/or microphthalmia, arthrogryposis, severe developmental delay, severe postnatal growth failure and facial dys …
Cerebro-oculo-facio-skeletal (COFS) syndrome is an autosomal recessive inherited disorder characterized by congenital microcep …
Cockayne syndrome: the expanding clinical and mutational spectrum.
Laugel V. Laugel V. Mech Ageing Dev. 2013 May-Jun;134(5-6):161-70. doi: 10.1016/j.mad.2013.02.006. Epub 2013 Feb 18. Mech Ageing Dev. 2013. PMID: 23428416 Review.
At the opposite end of the scale, the most severely affected patients, showing a prenatal onset of the symptoms, are overlapping with the cerebro-oculo-facio-skeletal (COFS) syndrome. These overlapping subtypes build a continuous spectrum without clear thresholds. . …
At the opposite end of the scale, the most severely affected patients, showing a prenatal onset of the symptoms, are overlapping with the ce …
MICRO syndrome: an entity distinct from COFS syndrome.
Graham JM Jr, Hennekam R, Dobyns WB, Roeder E, Busch D. Graham JM Jr, et al. Am J Med Genet A. 2004 Jul 30;128A(3):235-45. doi: 10.1002/ajmg.a.30060. Am J Med Genet A. 2004. PMID: 15216543 Review.
At birth, MICRO syndrome resembles Cerebro-Oculo-Facio-Skeletal (COFS) syndrome, but it differs in the lack of the rapidly progressive neurologic features leading to severe brain atrophy with calcifications. Patients with MICRO syndrome manifest frontal cortical dys …
At birth, MICRO syndrome resembles Cerebro-Oculo-Facio-Skeletal (COFS) syndrome, but it differs in the lack of the rapidly pro …
Disease-causing missense mutations in human DNA helicase disorders.
Suhasini AN, Brosh RM Jr. Suhasini AN, et al. Mutat Res. 2013 Apr-Jun;752(2):138-152. doi: 10.1016/j.mrrev.2012.12.004. Epub 2012 Dec 28. Mutat Res. 2013. PMID: 23276657 Free PMC article. Review.
XPB or XPD missense mutations lead to Xeroderma pigmentosum, Cockayne's syndrome, Trichothiodystrophy, or COFS syndrome, suggesting that DNA repair and transcription defects are responsible for clinical heterogeneity. ...
XPB or XPD missense mutations lead to Xeroderma pigmentosum, Cockayne's syndrome, Trichothiodystrophy, or COFS syndrome, sugge …
[Cerebro-oculo-facio-skeletal (COFS) syndrome].
Kosuga M, Okuyama T. Kosuga M, et al. Ryoikibetsu Shokogun Shirizu. 2000;(30 Pt 5):49-50. Ryoikibetsu Shokogun Shirizu. 2000. PMID: 11057139 Review. Japanese. No abstract available.
[Cerebro-oculo-facio-skeletal (COFS) syndrome].
Kimura J. Kimura J. Ryoikibetsu Shokogun Shirizu. 2001;(33):357-8. Ryoikibetsu Shokogun Shirizu. 2001. PMID: 11462474 Review. Japanese. No abstract available.
Oxidative and energy metabolism as potential clues for clinical heterogeneity in nucleotide excision repair disorders.
Hosseini M, Ezzedine K, Taieb A, Rezvani HR. Hosseini M, et al. J Invest Dermatol. 2015 Feb;135(2):341-351. doi: 10.1038/jid.2014.365. Epub 2014 Oct 9. J Invest Dermatol. 2015. PMID: 25296907 Free article. Review.
The absence or dysfunction of NER results in the following distinct disorders: xeroderma pigmentosum (XP), Cockayne syndrome (CS), cerebro-oculo-facio-skeletal (COFS) syndrome, UV-sensitive syndrome (UVSS), trichothiodystrophy (TTD), or combined syndromes including …
The absence or dysfunction of NER results in the following distinct disorders: xeroderma pigmentosum (XP), Cockayne syndrome (CS), cerebro-o …
11 results